Transcript Cri-du-chat PPT

Cri-Du-Chat
By: Jackson McMurray, Brielle Dunn, Nick Petruccelli, Owen Malone
Brielle
Cri-du-chat (kree-doo-shah)
 Also known as chromosome 5p deletion syndrome, Lejeune's syndrome,
and cat cry syndrome.
 The name was chosen because when a baby is born there cry resembles a
cats cry and this is how they determine if the child has a disease.
 Who/when discovered?
 This disease was discovered by a geneticist named Jerome Lejeune, he
discovered this disease in 1963.
 Where/how discovered?
 This disease was discovered in France. He discovered this disease when
looking a chromosomes when he discovered a fragment caused by a
random non heredity deletion of the short arm on chromosome 5.
Brielle
Type of genetic disorder
 This is a disorder caused by the deletion of chromosome 5. which this results
in some of there genes missing. An important gene that is deleted is TERT
(telomerase reverse transcriptase) . This gene is so important because it
keep the chromosome tips in tact.
 This disease is not inherited it is caused by the deletion of chromosome 5 in
the mitosis.
Brielle
Genetics graphic
Nick
Symptoms
 Cat-like cry-Very high piched
 Mental retardation-Stupid
 Delayed development-Slow to grow
 Microcephaly-Small head size
 Hypertelorism-Widely spaced eyes
 Low birth weight-Below average
 Hypotonia-Weak muscle tone
Jackson
Effects
 Mental retardation-Stupid
 Microcephaly-Small head size
 Hypertelorism-Widely spaced eyes
 Delayed development-slow to grow
Jackson
Diagnosis
Doctors can tell if a person has Cri-Du-Chat from the following easy signs:
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High pitched cry
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Low birth weight
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Small head size
The test used worldwide is the physical test because it can reveal almost
all the symptoms. Sometimes genetic tests can also reveal a missing
Chromosome.
Jackson
No Limits?
Physical defects
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high-pitched cat-like cry
scoliosis
small head size (microcephaly)
widely-spaced eyes
low birth weight and weak muscle
tone in infancy
Developmental delays
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feeding difficulties
delays in walking
hyperactivity
mental retardation
• The cat-like cry typically becomes less apparent with time.
• A small number of children are born with serious organ defects
and other life-threatening medical conditions.
Owen
Family
 Even though most people with this disorder have limitations they are friendly
and happy, and enjoy social interaction.
 Most individuals with cri du chat syndrome have a normal life expectancy.
Owen
Treatments
 For this disorder there is no cure.
 If they have any organ defects they will need surgery.
 They will need therapy in
 Speech and language
 Learning
 Coordination
 Movement
Owen
NORD
 The national organization for rare diseases objective is to
 let people affected by this disorder know what cri-du-chat is and what the
affects are
 raise awareness of the disease
 let people know that they aren’t alone
Owen
Brielle
Cri-du-chat Story
I am summarizing a story about James and
his parents. His parents were devastated
when he was first diagnosed with Cri-duchat. But they learned to deal with the
cards they were dealt and help James grow
up to the best of his ability. They say when
ever they feel sad they brush it off because
they don’t want James to think he caused
them sadness or disappointment. They also
say that other parents should not be worried
because James brings them much joy and is
definitely progressing.
Nick
citations
 http://rarediseases.org/rare-diseases/cri-du-chat-syndrome/
 Http://www.criduchat.asn.au/content/james
 Http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/
 Dictionary,reference.com/browse/cri-du-chat
 https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome